CNOT3 is a modifier of PRPF31 mutations in retinitis pigmentosa with incomplete penetrance.
about
Identification of a PRPF4 loss-of-function variant that abrogates U4/U6.U5 tri-snRNP integration and is associated with retinitis pigmentosaThe Ccr4-Not complex is a key regulator of eukaryotic gene expressionTyro3 Modulates Mertk-Associated Retinal DegenerationarrEYE: a customized platform for high-resolution copy number analysis of coding and noncoding regions of known and candidate retinal dystrophy genes and retinal noncoding RNAs.Mutations in the NOT Genes or in the Translation Machinery Similarly Display Increased Resistance to Histidine StarvationGenetic architecture of retinal and macular degenerative diseases: the promise and challenges of next-generation sequencing.Multifunctional roles of the mammalian CCR4-NOT complex in physiological phenomena.Mutations in pre-mRNA processing factors 3, 8, and 31 cause dysfunction of the retinal pigment epithelium.Dominant PRPF31 mutations are hypostatic to a recessive CNOT3 polymorphism in retinitis pigmentosa: a novel phenomenon of "linked trans-acting epistasis".A Study into the Evolutionary Divergence of the Core Promoter Elements of PRPF31 and TFPT.Vision from next generation sequencing: multi-dimensional genome-wide analysis for producing gene regulatory networks underlying retinal development, aging and diseaseThe FgNot3 Subunit of the Ccr4-Not Complex Regulates Vegetative Growth, Sporulation, and Virulence in Fusarium graminearum.Modeling of autosomal-dominant retinitis pigmentosa in Caenorhabditis elegans uncovers a nexus between global impaired functioning of certain splicing factors and cell type-specific apoptosis.Non-viral therapeutic approaches to ocular diseases: An overview and future directionsTranscriptional regulation of PRPF31 gene expression by MSR1 repeat elements causes incomplete penetrance in retinitis pigmentosa.Autosomal recessive retinitis pigmentosa with homozygous rhodopsin mutation E150K and non-coding cis-regulatory variants in CRX-binding regions of SAMD7Characterization of macular structure and function in two Swedish families with genetically identified autosomal dominant retinitis pigmentosaNext generation sequencing based identification of disease-associated mutations in Swiss patients with retinal dystrophies.Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease.Next-generation sequencing-based molecular diagnosis of 35 Hispanic retinitis pigmentosa probandsTwo novel PRP31 premessenger ribonucleic acid processing factor 31 homolog mutations including a complex insertion-deletion identified in Chinese families with retinitis pigmentosa.Mutations in the small nuclear riboprotein 200 kDa gene (SNRNP200) cause 1.6% of autosomal dominant retinitis pigmentosaWhole exome sequencing of a dominant retinitis pigmentosa family identifies a novel deletion in PRPF31Autosomal dominant retinitis pigmentosa secondary to pre-mRNA splicing-factor gene PRPF31 (RP11): review of disease mechanism and report of a family with a novel 3-base pair insertion.Genes and Mutations Causing Autosomal Dominant Retinitis Pigmentosa.Genetic modifiers and oligogenic inheritance.RNA mis-splicing in disease.Variant haploinsufficiency and phenotypic non-penetrance in PRPF31-associated retinitis pigmentosa.Genetic modifiers as relevant biological variables of eye disorders.From Peas to Disease: Modifier Genes, Network Resilience, and the Genetics of Health.The phenotypic variability of HK1-associated retinal dystrophy.A large family with inherited optic disc anomalies: a correlation between a new genetic locus and complex ocular phenotypesGenetic modifier loci of mouse Mfrp(rd6) identified by quantitative trait locus analysis.Unraveling the mysteries of pre-mRNA splicing in the retina via stem cell technology.Comprehensive registration of DNA sequence variants associated with inherited retinal diseases in Leiden Open Variation Databases.PRPF4 mutations cause autosomal dominant retinitis pigmentosa.Predictors of visual acuity and genotype-phenotype correlates in a cohort of patients with Stargardt disease.The clinical implications of molecular monitoring and analyses of inherited retinal diseases.The Ccr4-Not Complex: Architecture and Structural Insights.Allelic Expression Imbalance in the Human Retinal Transcriptome and Potential Impact on Inherited Retinal Diseases.
P2860
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P2860
CNOT3 is a modifier of PRPF31 mutations in retinitis pigmentosa with incomplete penetrance.
description
2012 nî lūn-bûn
@nan
2012年の論文
@ja
2012年学术文章
@wuu
2012年学术文章
@zh-cn
2012年学术文章
@zh-hans
2012年学术文章
@zh-my
2012年学术文章
@zh-sg
2012年學術文章
@yue
2012年學術文章
@zh
2012年學術文章
@zh-hant
name
CNOT3 is a modifier of PRPF31 ...... sa with incomplete penetrance.
@en
type
label
CNOT3 is a modifier of PRPF31 ...... sa with incomplete penetrance.
@en
prefLabel
CNOT3 is a modifier of PRPF31 ...... sa with incomplete penetrance.
@en
P2093
P2860
P1433
P1476
CNOT3 is a modifier of PRPF31 ...... osa with incomplete penetrance
@en
P2093
Amna Z Shah
Giulia Venturini
Shomi S Bhattacharya
P2860
P304
P356
10.1371/JOURNAL.PGEN.1003040
P577
2012-11-08T00:00:00Z